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STX1B Gene Generalized epilepsy with febrile seizures plus type 9 NGS Genetic Test

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STX1B Gene Generalized epilepsy with febrile seizures plus type 9 NGS Genetic Test

Short Name: STX1B GEFS+ Type 9 NGS Test

Also known as: GEFS+ Type 9 Test, STX1B Gene Mutation Test, Epilepsy Genetic Panel

STX1B Gene Generalized epilepsy with febrile seizures plus type 9 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in Reports are typically available within 3 to 4 weeks after sample receipt.. Free home collection in 300+ cities across India.

NGS Genetic Test🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SULOCHANA HEMCHANDRA HOLLA

Dr SULOCHANA HEMCHANDRA HOLLA

Consultant Medical Geneticist · Reg: 8532

Last reviewed: September 7, 2026

Overview

The primary purpose of this test is to identify mutations in the STX1B gene that are responsible for Generalized Epilepsy with Febrile Seizures Plus Type 9. It helps confirm a clinical diagnosis of GEFS+, assess genetic risk for individuals with a family history of epilepsy, guide treatment decisions, and facilitate genetic counseling for family planning. By detecting specific genetic variants, the test enables personalized medicine approaches and contributes to understanding the genetic basis of epilepsy.

Test Code
1628
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Reports are typically available within 3 to 4 weeks after sample receipt.
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

Genetic counseling session is recommended prior to testing. Provide clinical history and family pedigree details.

Method: Venipuncture for blood samples

Step 2

Laboratory Analysis

A blood sample is drawn via venipuncture from a vein in the arm. Alternatively, one drop of blood on an FTA card can be used.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bruising. Sample is transported to the lab under controlled conditions.

Timeline: Reports are typically available within 3 to 4 weeks after sample receipt.

Patient Instructions

1
Before the Test:Schedule a genetic counseling session to discuss family history and test implications. No fasting is required, but provide detailed clinical history.
2
During the Test:The test involves a simple blood draw or FTA card sample collection, which takes about 10-15 minutes. The sample is then sent to the lab for NGS analysis.
3
After the Test:After sample collection, you can resume normal activities. Reports are delivered in 3 to 4 weeks via online portal, email, or WhatsApp.

About This Test

Who Should Get This Test

The primary purpose of this test is to identify mutations in the STX1B gene that are responsible for Generalized Epilepsy with Febrile Seizures Plus Type 9. It helps confirm a clinical diagnosis of GEFS+, assess genetic risk for individuals with a family history of epilepsy, guide treatment decisions, and facilitate genetic counseling for family planning. By detecting specific genetic variants, the test enables personalized medicine approaches and contributes to understanding the genetic basis of epilepsy.

How to Prepare

  • Use sterile equipment for blood collection.
  • Label the sample correctly with patient details.
  • For FTA card, air-dry the blood spot completely before packaging.
  • Store and transport blood samples at ambient room temperature.
  • Ensure proper documentation and consent forms are completed.

Doctor's Notes

Reviewed by — MBBS, MD (Medical Genetics) · Reg. No. 8532

"This test is crucial for diagnosing genetic epilepsy syndromes, especially in families with a history of febrile seizures, aiding in genetic counseling and personalized management."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume3-5 ml of blood
ContainerEDTA Tube or FTA Card
Collection MethodVenipuncture for blood samples

Sample Stability

Sample Rejection Criteria:
  • Hemolyzed or clotted blood samples
  • Insufficient sample volume
  • Improperly labeled or contaminated samples
  • Samples without proper clinical history or consent

Understanding Your Results

The results of the STX1B Gene GEFS+ Type 9 NGS Test provide genetic insights into the presence of mutations. Interpretation should be done by a qualified geneticist or neurologist in conjunction with clinical findings.
A negative result indicates no pathogenic variants were detected in the STX1B gene, but does not rule out other genetic causes.
A positive result with pathogenic or likely pathogenic variants confirms a genetic diagnosis of GEFS+ Type 9 and informs management.
Variants of uncertain significance require further investigation and may not be clinically actionable.
Results should be correlated with family history and clinical presentation for accurate assessment.
⚠️ When to Consult a Doctor:

Consult a doctor immediately if you experience seizures, especially febrile seizures in children, or have a family history of epilepsy. After testing, discuss results with a neurologist or geneticist for personalized care.

Limitations

  • ⚠This test detects mutations in the STX1B gene only; other genes linked to GEFS+ are not analyzed.
  • ⚠It may not identify all genetic variants due to technical limitations of NGS.
  • ⚠Results require clinical correlation and should not be used solely for diagnosis.
  • ⚠Variant interpretation may be complex for uncertain significance variants.

Risks & Considerations

  • ●Minimal risk of bruising or discomfort at the blood draw site
  • ●Rare risk of infection or fainting during venipuncture

Interfering Factors

  • ●Sample contamination during collection or processing
  • ●Degraded DNA due to improper storage or handling
  • ●Presence of inhibitors in blood samples affecting NGS analysis
  • ●Technical errors in sequencing or bioinformatics analysis

Frequently Asked Questions

What is GEFS+ Type 9?
GEFS+ Type 9 is a rare genetic epilepsy syndrome caused by mutations in the STX1B gene, characterized by generalized seizures and fever-induced seizures.
Why is the STX1B gene test important?
This test identifies mutations that cause epilepsy, helping in accurate diagnosis, risk assessment for families, and guiding personalized treatment.
How is the test performed?
The test uses Next-Generation Sequencing (NGS) to analyze DNA from a blood sample or FTA card, detecting variants in the STX1B gene.
What is the cost of the test?
The test costs INR 20000.0, which includes home sample collection and genetic counseling.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection across India for this test.
How long does it take to get results?
Results are typically delivered within 3 to 4 weeks after sample collection.
What samples are required for the test?
Blood samples (3-5 ml) in an EDTA tube, extracted DNA, or one drop of blood on an FTA card are accepted.
Is fasting required for this test?
No, fasting is not required. You can eat and drink normally before the test.
What do the results mean?
Results may show no variants, pathogenic variants, or uncertain variants. Interpretation should be done by a geneticist or neurologist.
Can this test diagnose other types of epilepsy?
This test specifically targets STX1B gene mutations linked to GEFS+ Type 9. For other epilepsy types, a comprehensive gene panel may be needed.
Is genetic counseling included?
Yes, a genetic counseling session is recommended before testing and is part of the service to draw a family pedigree chart.
What should I do after receiving the results?
Discuss the results with a healthcare provider or genetic counselor to understand implications, management options, and family risk.
Worried about the process? Our certified phlebotomists collect thousands of samples every month across India. The process takes under 5 minutes and is virtually painless. Questions? Message us on WhatsApp — we're here 7 days a week.

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For Hospitals & Clinics

Reference Laboratory Services

We serve as a reference laboratory for hospitals and clinics across India. Send samples from your facility with same-day pickup, priority processing, and results delivered through our online portal. Competitive institutional pricing available.

LIMS Integration

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Your medical data is protected under Indian law.

✓ Stored in India: All patient records are stored on servers located in India. No data is transferred outside the country.

✓ DPDP Act Compliant: Under the Digital Personal Data Protection Act 2023, you can request deletion of your records at any time by contacting support.

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